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rs80357338

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357338(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094486
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357338
ebirs80357338
HLIrs80357338
Exacrs80357338
Varsomers80357338
Maprs80357338
PheGenIrs80357338
hapmaprs80357338
1000 genomesrs80357338
hgdprs80357338
ensemblrs80357338
gopubmedrs80357338
geneviewrs80357338
scholarrs80357338
googlers80357338
pharmgkbrs80357338
gwascentralrs80357338
openSNPrs80357338
23andMers80357338
23andMe allrs80357338
SNP Nexus

SNPshotrs80357338
SNPdbers80357338
MSV3drs80357338
GWAS Ctlgrs80357338
Max Magnitude6
rs80357338, also known as E349X, c.1045G>T and p.Glu349Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357338(T;T)
Alt rs80357338(T;T)
Reference rs80357338(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246503C>A
CLNSRC ClinVar
CLNACC RCV000047318.2, RCV000111531.1,